Linked Data
ClinVar Variation Id:
266484
dbSNP Id:
rs886040237
gnomAD v2:
17-41226450-G-A
gnomAD v3:
17-43074433-G-A
gnomAD v4:
17-43074433-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074433G>A , CM000679.2:g.43074433G>A | GRCh38 |
| NC_000017.10:g.41226450G>A , CM000679.1:g.41226450G>A | GRCh37 |
| NC_000017.9:g.38479976G>A | NCBI36 |
| NG_005905.2:g.143551C>T , LRG_292:g.143551C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4570C>T | ENSP00000417241.2:p.Gln1524Ter | |
| ENST00000470026.6:c.4573C>T | ENSP00000419274.2:p.Gln1525Ter | |
| ENST00000473961.6:c.4447C>T | ENSP00000420201.2:p.Gln1483Ter | |
| ENST00000476777.6:c.4567C>T | ENSP00000417554.2:p.Gln1523Ter | |
| ENST00000477152.6:c.4495C>T | ENSP00000419988.2:p.Gln1499Ter | |
| ENST00000478531.6:c.1261C>T | ENSP00000420412.2:p.Gln421Ter | |
| ENST00000489037.2:c.4495C>T | ENSP00000420781.2:p.Gln1499Ter | |
| ENST00000493919.6:c.1123C>T | ENSP00000418819.2:p.Gln375Ter | |
| ENST00000494123.6:c.4573C>T | ENSP00000419103.2:p.Gln1525Ter | |
| ENST00000497488.2:c.3685C>T | ENSP00000418986.2:p.Gln1229Ter | |
| ENST00000618469.2:c.4573C>T | ENSP00000478114.2:p.Gln1525Ter | |
| ENST00000634433.2:c.4450C>T | ENSP00000489431.2:p.Gln1484Ter | |
| ENST00000644379.2:c.4639C>T | ENSP00000496570.2:p.Gln1547Ter | |
| ENST00000644555.2:c.1123C>T | ENSP00000494614.2:p.Gln375Ter | |
| ENST00000652672.2:c.4432C>T | ENSP00000498906.2:p.Gln1478Ter | |
| ENST00000484087.6:c.1135C>T | ENSP00000419481.2:p.Gln379Ter | |
| ENST00000700182.1:c.1180C>T | ENSP00000514849.1:p.Gln394Ter | |
| ENST00000357654.9:c.4573C>T MANE Select | ENSP00000350283.3:p.Gln1525Ter | |
| ENST00000471181.7:c.4636C>T | ENSP00000418960.2:p.Gln1546Ter | |
| ENST00000644379.1:c.960C>T | ||
| ENST00000352993.7:c.1147C>T | ENSP00000312236.5:p.Gln383Ter | |
| ENST00000357654.7:c.4573C>T | ENSP00000350283.3:p.Gln1525Ter | |
| ENST00000461221.5:c.*4356C>T | ENSP00000418548.1:n.*4356C>T | |
| ENST00000468300.5:c.1261C>T | ENSP00000417148.1:p.Gln421Ter | |
| ENST00000471181.6:c.4636C>T | ENSP00000418960.2:p.Gln1546Ter | |
| ENST00000478531.5:c.1261C>T | ENSP00000420412.1:p.Gln421Ter | |
| ENST00000484087.5:c.886C>T | ENSP00000419481.1:p.Gln296Ter | |
| ENST00000491747.6:c.1261C>T | ENSP00000420705.2:p.Gln421Ter | |
| ENST00000493795.5:c.4432C>T | ENSP00000418775.1:p.Gln1478Ter | |
| ENST00000493919.5:c.1123C>T | ENSP00000418819.1:p.Gln375Ter | |
| ENST00000586385.5:c.5-10482C>T | ENSP00000465818.1:n.5-10482C>T | |
| ENST00000591534.5:c.46C>T | ENSP00000467329.1:p.Gln16Ter | |
| ENST00000591849.5:c.-98-24243C>T | ENSP00000465347.1:n.-98-24243C>T | |
| NM_007294.3:c.4573C>T , LRG_292t1:c.4573C>T | NP_009225.1:p.Gln1525Ter | |
| NM_007297.3:c.4432C>T | NP_009228.2:p.Gln1478Ter | |
| NM_007298.3:c.1261C>T | NP_009229.2:p.Gln421Ter | |
| NM_007299.3:c.1261C>T | NP_009230.2:p.Gln421Ter | |
| NM_007300.3:c.4636C>T | NP_009231.2:p.Gln1546Ter | |
| NR_027676.1:n.4709C>T | ||
| NM_007294.4:c.4573C>T MANE Select | NP_009225.1:p.Gln1525Ter | |
| NM_007297.4:c.4432C>T | NP_009228.2:p.Gln1478Ter | |
| NM_007299.4:c.1261C>T | NP_009230.2:p.Gln421Ter | |
| NM_007300.4:c.4636C>T | NP_009231.2:p.Gln1546Ter | |
| NR_027676.2:n.4750C>T |